Showing results (171-180 of 371) with videos related to
Sort By:
Pageof 38
Human Mutation|April 29, 1999
Co-segregation of MEN2 and Hirschsprung's disease: the same mutation of RET with both gain and loss-of-function?M Takahashi, T Iwashita, M Santoro, et al.The Journal of Clinical Endocrinology and Metabolism|May 10, 2001
Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factorsM Castanet, M Polak, C Bonaïti-Pellié, et al.Heart (British Cardiac Society)|August 24, 2000
Mechanical properties of the common carotid artery in Williams syndromeY Aggoun, D Sidi, B I Levy, et al.Blood|August 23, 2021
The association of Greig syndrome and mastocytosis reveals the involvement of the hedgehog pathway in advanced mastocytosisL Polivka, V Parietti, J Bruneau, et al.Journal of the European Academy of Dermatology and Venereology : JEADV|May 17, 2013
Atopic dermatitis burden scale: creation of a specific burden questionnaire for familiesC Méni, C Bodemer, A Toulon, et al.The British Journal of Dermatology|August 25, 2018
Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patientsD Bessis, F Morice-Picard, E Bourrat, et al.American Journal of Human Genetics|April 1, 1989
Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiencyS Lyonnet, C Caillaud, F Rey, et al.Prenatal Diagnosis|August 9, 2001
Prenatal diagnosis of respiratory chain deficiency by direct mutation screeningJ Amiel, N Gigarel, A Benacki, et al.Clinical Genetics|January 21, 2017
Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype-phenotype studyC Tardieu, S Jung, K Niederreither, et al.Journal of Medical Genetics|December 1, 1996
Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25A Raas-Rothschild, S Manouvrier, M Gonzales, et al.Pageof 38